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. 2022 Aug;66(2):193-197.
doi: 10.1002/mus.27532. Epub 2022 Apr 11.

Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000-2015

Shiny Thomas  1 , Kristin M Conway  2 , Olushola Fapo  1 , Natalie Street  3 , Katherine D Mathews  4 , Joshua R Mann  5 , Paul A Romitti  2 , Aida Soim  1 , Christina Westfield  1 , Deborah J Fox  1 , Emma Ciafaloni  6 ; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
Affiliations

Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000-2015

Shiny Thomas et al. Muscle Nerve. 2022 Aug.

Abstract

Introduction/aims: With current and anticipated disease-modifying treatments, including gene therapy, an early diagnosis for Duchenne muscular dystrophy (DMD) is crucial to assure maximum benefit. In 2009, a study from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) showed an average diagnosis age of 5 years among males with DMD born from January 1, 1982 to December 31, 2000. Initiatives were implemented by the US Centers for Disease Control and Prevention (CDC) and patient organizations to reduce time to diagnosis. We conducted a follow-up study in a surveillance cohort born after January 1, 2000 to determine whether there has been an improvement in time to diagnosis.

Methods: We assessed the age of diagnosis among males with DMD born from January 1, 2000 to December 31, 2015 using data collected by six US MD STARnet surveillance sites (Colorado, Iowa, western New York State, the Piedmont region of North Carolina, South Carolina, and Utah). The analytic cohort included 221 males with definite or probable DMD diagnosis without a documented family history. We computed frequency count and percentage for categorical variables, and mean, median, and standard deviation (SD) for continuous variables.

Results: The mean [median] ages in years of diagnostic milestones were: first signs, 2.7 [2.0]; first creatine kinase (CK), 4.6 [4.6]; DNA/muscle biopsy testing, 4.9 [4.8]; and time from first signs to diagnostic confirmation, 2.2 [1.4].

Discussion: The time interval between first signs of DMD and diagnosis remains unchanged at 2.2 years. This results in lost opportunities for timely genetic counseling, implementation of standards of care, initiation of glucocorticoids, and participation in clinical trials.

Keywords: Duchenne muscular dystrophy; MD STARnet; delay; diagnostic criteria; muscle dystrophy; surveillance.

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Conflict of interest statement

CONFLICT OF INTEREST

Dr. Emma Ciafaloni has received personal compensation for serving on advisory boards and/or as a consultant for Viela Bio, Avexis, Biogen, Medscape, Amicus, PTC Therapeutics, Sarepta Therapeutics, Ra Pharma, Wave, and Strongbridge Biopharma plc. Dr. Ciafaloni has received personal compensation for serving on a speaker’s bureau for Biogen as well as research and/or grant support from the CDC, CureSMA, Muscular Dystrophy Association, National Institutes of Health, Orphazyme, the Patient-Centered Outcomes Research Institute, Parent Project Muscular Dystrophy, PTC Therapeutics, Santhera, Sarepta Therapeutics, Orphazyme, and the US Food and Drug Administration. Dr. Ciafaloni has also received royalties from Oxford University Press and compensation from Medlink for editorial duties.

Dr. Katherine Mathews receives research funding from NIH (NIAMS) P50 NS053672, NIH (NINDS) U24 NS-107181, and the Friedreich’s Ataxia Research Alliance, and serves as a site PI for clinical research sponsored by Italfarmaco, PTC, Sarepta, Pfizer, Retrotope, Reata and AMO.

The other authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Histogram of age in years at important clinical and diagnostic milestones by race/ethnicity among males with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network, 2000–2015. Statistically significant differences (P < .05) were determined by Dwass-Steel-Critchlow-Fligner method pairwise analysis and denoted by asterisk
See this image and copyright information in PMC

Comment in

References

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